Researchers at the University of New Mexico are launching the first-ever human trial to explore medical treatment for a genetic disease that afflicts a large population of Hispanic New Mexicans.
There is no cure for the familial form of cerebral cavernous malformation, or CCM, which can cause epilepsy, disabling headaches, bleeding, permanent brain defects and death.
The disease affects thousands of New Mexicans. Its origin is believed to trace back to a family that came here several hundred years ago, possibly from Spain.
The study, headed by Dr. Leslie Morrison, a UNM professor of neurology and pediatrics, began in 2009 and is reviewing 500 patients with the gene mutation known as CCM1, or the Common Hispanic Mutation. It is funded by the National Institute for Neurological Diseases and Stroke Study at $250,000 per year.
But a new element, just recently approved, is a drug study on about 30 patients.
The hallmark of the disease is clusters of abnormally enlarged blood vessels, also called cavernous malformations, in the brain or spinal cord. If the lesions leak, they can irritate the surface of the brain or hemorrhage with surrounding swelling, causing sudden loss of neurological functions, Morrison said.
“We think one of biggest problems of having this disease is not just the lesions are there, but of course that they can be leaky or be permeable,” Morrison said.
The study, which is based on animal data from researchers at the University of Utah, will test the effectiveness of the cholesterol-lowering medication simvastatin. The idea is that the drug will decrease the permeability of the lesions in the brain.
“We’re just trying to capitalize on the fact that we have this very large population,” she said. “We have a drug that’s already available in the U.S., and it’s a safe drug.”
Because Morrison and other researchers don’t want to cause any harm with the pilot study, they are looking for adult patients who have both high cholesterol and cavernous malformations. That’s proven difficult, and so far they have no patients enrolled.
Amadeo Lopez, 15, and his dad, Adam, were among the first 100 patients in Morrison’s baseline study — which looks at the clinical features of the disease and does not involve drug treatment.
The disease runs in three generations of the Lopez family. But while Adam has had almost no problems, Amadeo’s headaches, dizziness and seizures have intensified over the past year, said his mom, Mara Gebhardt. Now he and his parents are faced with a decision about whether to try brain surgery to remove the lesion that appears to be causing the problem.
“Sometimes, I can’t even go to school. Sometimes, it’s so bad that I have to stay home the whole day,” Amadeo said, adding that lately he’s been missing school about once a week due to his symptoms.
One of the study’s aims is to learn why some patients — about one-third — don’t have any symptoms, while another, smaller percentage are fairly severely disabled by the disease, Morrison said.
Adam’s brother, Mario Lopez, carries the disease but has not suffered symptoms. But when his son, Noah, started getting sick just after his first birthday, his parents suspected CCM.
Noah was pale, lethargic, would cry when touched and began to violently throw up. He needed two operations in October: the first to remove a mass about the size of a golf ball on his brain stem, and the second to remove two others that replaced it.
Now 17 months old, he is back in the hospital because he has episodes in which he stops breathing. The chubby toddler has a tracheal tube, a feeding tube and last week had a pacemaker put in to regulate his heart.
“It just causes all kinds of problems,” said Noah’s mom, Tiffany Crisostomo. “There’s such a vast family history. He’s got such a huge family. It’s crazy how it just trickles down the line.”
— This article appeared on page A1 of the Albuquerque Journal